mitochondrial disorder due to a defect in mitochondrial protein synthesis

mitochondrial disorder due to a defect in mitochondrial protein synthesis

Item
http://www.wikidata.org/entity/Q55787768
pontocerebellar hypoplasia type 6spastic ataxia 3spastic ataxia 4spinocerebellar ataxia type 28HUPRA syndromehereditary spastic paraplegia 55hereditary spastic paraplegia 77hereditary spastic paraplegia 7leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeacute infantile liver failure due to synthesis defect of mtDNA-encoded proteinscataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromecombined oxidative phosphorylation defect type 25combined oxidative phosphorylation defect type 26combined oxidative phosphorylation defect type 27neonatal severe cardiopulmonary failure due to mitochondrial methylation defectcombined oxidative phosphorylation defect type 30syndromic sensorineural deafness due to combined oxidative phosphorylation defect
P279

mitochondrial disorder due to a defect in mitochondrial protein synthesis

Item
http://www.wikidata.org/entity/Q55787768
description
human disease
@en
name
mitochondrial disorder due to a defect in mitochondrial protein synthesis
@en
type
label
mitochondrial disorder due to a defect in mitochondrial protein synthesis
@en
altLabel
COXPD
@en
Combined OXPHOS defect
@en
Combined OXPHOS deficiency
@en
Combined oxidative phosphorylation defect
@en
prefLabel
mitochondrial disorder due to a defect in mitochondrial protein synthesis
@en
P1550
P279
P2888
P31
P4229
P5270
P1550
P279
P2888
P31
P4229
P5270